- ►bmj.com [PDF] A Parissiadis, A Dormoy, D Fricker, D Hanau, … - British Medical Journal, 2005 - bjo.bmj.com Ultrahigh resolution optical coherence tomography of birdshot
retinochoroidopathy Birdshot retinochoroidopathy is a rare inflammatory eye
disease with typical clinical presentation and strong association with the ... Cited by 8 - Related articles - All 8 versions
F Doğu, A İkincioğulları, D Fricker, G … - Parasitology International, 2006 - Elsevier The presentation of peptide antigens by HLA class I molecules requires the
transport of the peptides from the cytosol into the lumen of the endoplasmic
reticulum by TAP [1]. Congenital deficiency in one of the two subunits of ... Cited by 6 - Related articles - All 3 versions
J Zimmer, H Bausinger, E Andrès, L Donato, D … - PLoS ONE, 2007 - pubmedcentral.nih.gov Peripheral blood natural killer (NK) cells from patients with transporter
associated with antigen processing (TAP) deficiency are hyporesponsive. The
mechanism of this defect is unknown, but the phenotype of TAP-deficient NK ... Cited by 3 - Related articles - All 6 versions
- ►oxfordjournals.org J Zimmer, E Andres, L Donato, D Hanau, F … - Qjm, 2005 - Oxford Univ Press Human leukocyte antigen (HLA) class I deficiency is a rare disease with
remarkable clinical and biological heterogeneity. The spectrum of possible
manifestations extends from the complete absence of symptoms to ... Cited by 19 - Related articles - BL Direct - All 5 versions
H De la Salle, X Saulquin, I Mansour, S … - Clinical and Experimental Immunology, 2002 - pubmedcentral.nih.gov Human HLA class I deficiency is a rare disease which, in most of the patients
described to date, results from a defect in subunit 1 or 2 of the peptide
transporter associated with antigen processing (TAP). The clinical features ... Cited by 24 - Related articles - BL Direct - All 5 versions
N Matamoros, J Mila, M Llano, A Balas, JL … - Clinical and Experimental Immunology, 2001 - pubmedcentral.nih.gov In this paper we describe the clinical and molecular features of a new case
(GOR) of homozygous human TAP2 deficiency, analysing the phenotype and function
of NK cells. The patient presented from infancy with recurrent ... Cited by 11 - Related articles - BL Direct - All 5 versions
A Plebani, V Monafo, R Cattaneo, G Carella, … - Journal of the American Academy of Dermatology, 1996 - cat.inist.fr We report the case of a boy with low expression of HLA class I molecules on
peripheral blood mononuclear cells, which is associated with immunodeficiency.
The patient, who had a Marfan-like phenotype, had chronic deep skin ulcers ... Cited by 12 - Related articles - BL Direct - All 5 versions
[CITATION] HLA class I deficiencies
H de la Salle, L DONATO, J ZIMMER, A … - Primary immunodeficiency diseases: a molecular and …, 1998 Cited by 12 - Related articles
L Donato, H de la Salle, D Hanau, C … - Revue française d'allergologie et d'immunologie …, 1997 - cat.inist.fr Notre équipe a pris en charge deux enfants issus d'une fratrie consanguine et
porteurs d'une pansinusite avec polypose nasale, otorrhée chronique et
bronchectasies diffuses. Ces deux enfants ont un déficit en molécules HLA ... Cited by 3 - Related articles
- ►bmj.com [PDF] PH Phillips, KJ Fray, MC Brodsky - British Medical Journal, 2005 - bjo.bmj.com Page 1. doi:10.1136/bjo.2004.063123 2005;89;1120-1122 Br. J. Ophthalmol. PH
Phillips, KJ Fray and MC Brodsky a "soft" sign of neurological ... Cited by 1 - Related articles - BL Direct - All 19 versions
